Linked Data
ClinVar Variation Id:
134148
ClinVar RCV Id:
RCV000120821
RCV000224511
RCV001116216
RCV001083882
RCV002257432
RCV003925183
RCV003224157
dbSNP Id:
rs1799802
ExAC:
16:14028081 C / T
gnomAD v2:
16-14028081-C-T
gnomAD v3:
16-13934224-C-T
gnomAD v4:
16-13934224-C-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13934224C>T , CM000678.2:g.13934224C>T | GRCh38 |
| NC_000016.9:g.14028081C>T , CM000678.1:g.14028081C>T | GRCh37 |
| NC_000016.8:g.13935582C>T | NCBI36 |
| NG_011442.1:g.19068C>T , LRG_463:g.19068C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682552.1:n.1123C>T | ||
| ENST00000682568.1:n.1213C>T | ||
| ENST00000682617.1:c.1273C>T | ENSP00000507912.1:p.Pro425Ser | |
| ENST00000682826.1:c.*449C>T | ENSP00000507274.1:n.*449C>T | |
| ENST00000682909.1:n.3175C>T | ||
| ENST00000683277.1:n.2780C>T | ||
| ENST00000683407.1:n.1143C>T | ||
| ENST00000683962.1:c.*829C>T | ENSP00000506854.1:n.*829C>T | |
| ENST00000311895.8:c.1135C>T MANE Select | ENSP00000310520.7:p.Pro379Ser | |
| ENST00000311895.7:c.1135C>T | ENSP00000310520.7:p.Pro379Ser | |
| ENST00000389138.7:n.412C>T | ||
| ENST00000573018.1:n.203C>T | ||
| NM_005236.2:c.1135C>T , LRG_463t1:c.1135C>T | NP_005227.1:p.Pro379Ser | |
| XM_011522424.1:c.1273C>T | XP_011520726.1:p.Pro425Ser | |
| XM_011522425.1:c.592C>T | XP_011520727.1:p.Pro198Ser | |
| XM_011522426.1:c.346C>T | XP_011520728.1:p.Pro116Ser | |
| XM_011522427.1:c.-216C>T | XP_011520729.1:n.-216C>T | |
| XR_932805.1:n.1294C>T | ||
| XM_011522424.3:c.1273C>T | XP_011520726.1:p.Pro425Ser | |
| XM_017023043.2:c.346C>T | XP_016878532.1:p.Pro116Ser | |
| NM_005236.3:c.1135C>T MANE Select | NP_005227.1:p.Pro379Ser |